A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5907219



Internal ID22682424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12388433..12392960hg38UCSC Ensembl
chr6:12388665..12393192hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg384528
hg194528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17420692
Samples
Known GenesRNU6-48P
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5907219
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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